Incidental Mutation 'R1624:Megf6'
ID 174872
Institutional Source Beutler Lab
Gene Symbol Megf6
Ensembl Gene ENSMUSG00000057751
Gene Name multiple EGF-like-domains 6
Synonyms 2600001P17Rik, Egfl3
MMRRC Submission 039661-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1624 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 154255187-154360170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 154261578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 68 (V68L)
Ref Sequence ENSEMBL: ENSMUSP00000030897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030897]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030897
AA Change: V68L

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: V68L

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
EGF_CA 122 162 1.54e-6 SMART
EGF_CA 163 203 2.08e-12 SMART
EGF 207 245 5.4e-2 SMART
EGF 249 286 2.39e-3 SMART
EGF_CA 287 327 4.96e-10 SMART
EGF 336 373 1.64e-1 SMART
EGF 377 413 1.99e1 SMART
EGF_CA 414 454 7.4e-9 SMART
EGF 521 554 4.26e0 SMART
EGF_Lam 570 609 1.19e-3 SMART
EGF_like 613 652 5.29e-1 SMART
EGF 642 685 2.2e1 SMART
EGF_Lam 656 697 1.04e-3 SMART
EGF 687 730 1.59e1 SMART
EGF_like 701 742 2.27e0 SMART
EGF_Lam 746 784 1.33e-1 SMART
EGF 783 816 2.85e-1 SMART
EGF_Lam 832 871 3.88e-3 SMART
EGF_Lam 875 915 3.25e-5 SMART
EGF 914 946 4.7e-2 SMART
EGF_like 962 1001 1.69e-1 SMART
EGF 1000 1032 7.02e-1 SMART
EGF_Lam 1048 1087 3.1e-2 SMART
EGF 1077 1118 7.53e-1 SMART
EGF_like 1091 1130 5.59e-1 SMART
EGF 1129 1161 5.04e-2 SMART
EGF_Lam 1177 1216 2.94e-3 SMART
EGF 1206 1248 1.87e1 SMART
EGF_Lam 1220 1260 3.1e-2 SMART
EGF 1259 1291 1.73e0 SMART
EGF 1302 1334 6.55e-1 SMART
EGF 1345 1377 4.39e-2 SMART
EGF_Lam 1393 1432 7.64e-2 SMART
EGF_Lam 1436 1475 2.64e-5 SMART
EGF_like 1465 1506 4.2e1 SMART
EGF_Lam 1479 1518 1.19e-3 SMART
EGF 1517 1549 1.84e1 SMART
Meta Mutation Damage Score 0.0895 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 99% (90/91)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T C 16: 21,472,496 (GRCm39) Y68C probably damaging Het
6820408C15Rik A T 2: 152,276,031 (GRCm39) H81L probably damaging Het
Acbd4 A G 11: 102,994,785 (GRCm39) T48A probably damaging Het
Acp3 T A 9: 104,197,200 (GRCm39) E146D probably benign Het
Acsm1 T A 7: 119,251,796 (GRCm39) I307N probably damaging Het
Adcy4 T C 14: 56,019,384 (GRCm39) T89A possibly damaging Het
Agl T C 3: 116,580,895 (GRCm39) T356A probably benign Het
Ago1 A G 4: 126,357,534 (GRCm39) I47T probably damaging Het
Akr1c6 T A 13: 4,496,363 (GRCm39) Y75N probably benign Het
Anxa2 T A 9: 69,386,990 (GRCm39) S92T probably benign Het
Arid4b T C 13: 14,358,979 (GRCm39) S585P probably damaging Het
Arl4d T C 11: 101,557,842 (GRCm39) S123P possibly damaging Het
Atad2 A T 15: 57,963,415 (GRCm39) D1067E probably damaging Het
Brap C A 5: 121,820,922 (GRCm39) T403K possibly damaging Het
Brwd1 A T 16: 95,809,344 (GRCm39) N1895K possibly damaging Het
Ccdc187 T C 2: 26,171,087 (GRCm39) T464A probably benign Het
Ccn6 G A 10: 39,029,239 (GRCm39) R230W probably damaging Het
Cdh11 T C 8: 103,391,233 (GRCm39) probably benign Het
Chd9 A T 8: 91,725,163 (GRCm39) Y691F probably benign Het
Clhc1 A T 11: 29,519,287 (GRCm39) I365F possibly damaging Het
Col11a1 A G 3: 113,951,804 (GRCm39) Q1078R probably damaging Het
Creb3 G A 4: 43,566,375 (GRCm39) V294I possibly damaging Het
Cspg4 T C 9: 56,795,754 (GRCm39) I1163T probably damaging Het
Cyp3a57 A C 5: 145,327,225 (GRCm39) probably null Het
Dnah3 A T 7: 119,618,918 (GRCm39) I1661N probably damaging Het
Dpysl4 A C 7: 138,669,469 (GRCm39) D49A probably damaging Het
Efhb T A 17: 53,733,306 (GRCm39) I522F probably damaging Het
Epha4 T C 1: 77,376,329 (GRCm39) T517A probably damaging Het
Fasn A G 11: 120,703,937 (GRCm39) S1466P probably damaging Het
Fgd6 A T 10: 93,973,298 (GRCm39) D1253V probably benign Het
Fjx1 G A 2: 102,281,509 (GRCm39) A142V probably benign Het
Foxb1 T C 9: 69,666,598 (GRCm39) T311A probably benign Het
Fpgs A G 2: 32,581,200 (GRCm39) probably null Het
Gm10024 A G 10: 77,547,606 (GRCm39) probably null Het
Gnat3 A T 5: 18,208,841 (GRCm39) T182S possibly damaging Het
Igsf3 T A 3: 101,362,543 (GRCm39) F875I probably benign Het
Kif13b A G 14: 64,976,068 (GRCm39) E461G probably damaging Het
Kif23 A T 9: 61,832,982 (GRCm39) probably null Het
Kntc1 G A 5: 123,896,540 (GRCm39) R134Q possibly damaging Het
Krt33a A T 11: 99,905,072 (GRCm39) Y145N probably damaging Het
Lama5 A G 2: 179,848,551 (GRCm39) V313A probably benign Het
Lamb1 T C 12: 31,328,651 (GRCm39) probably null Het
Mtor C T 4: 148,632,133 (GRCm39) L2336F probably damaging Het
Naglu T C 11: 100,967,351 (GRCm39) S434P probably damaging Het
Ncoa7 T A 10: 30,580,655 (GRCm39) H101L possibly damaging Het
Nlrc4 G A 17: 74,752,184 (GRCm39) T733I possibly damaging Het
Nr3c2 A G 8: 77,636,573 (GRCm39) E558G probably damaging Het
Nsun4 A T 4: 115,891,397 (GRCm39) N327K probably benign Het
Or11g27 A G 14: 50,771,100 (GRCm39) Y77C probably damaging Het
Or1x2 T C 11: 50,917,952 (GRCm39) V41A probably damaging Het
Or2m13 T A 16: 19,226,454 (GRCm39) Y104F probably benign Het
Or4f6 T A 2: 111,838,877 (GRCm39) Y218F probably damaging Het
Or6b13 T C 7: 139,781,864 (GRCm39) N273S probably damaging Het
Pdia2 T A 17: 26,415,495 (GRCm39) I441F probably damaging Het
Phyh T C 2: 4,930,494 (GRCm39) S74P probably benign Het
Pigo A G 4: 43,024,661 (GRCm39) L146P probably damaging Het
Plce1 A G 19: 38,713,219 (GRCm39) D1191G probably damaging Het
Plrg1 T C 3: 82,975,301 (GRCm39) probably benign Het
Plrg1 G A 3: 82,977,051 (GRCm39) R364Q probably damaging Het
Polr3b T C 10: 84,515,669 (GRCm39) L614S probably damaging Het
Pramel16 A T 4: 143,676,400 (GRCm39) C235S possibly damaging Het
Prrg4 A G 2: 104,663,027 (GRCm39) V193A probably damaging Het
Prss16 T A 13: 22,187,483 (GRCm39) E47V probably benign Het
Ptpru G A 4: 131,499,861 (GRCm39) T1261I probably damaging Het
Pycard A G 7: 127,591,970 (GRCm39) S124P possibly damaging Het
Riok1 C A 13: 38,221,487 (GRCm39) D17E probably damaging Het
Scin T A 12: 40,177,929 (GRCm39) Y102F probably benign Het
Scmh1 A G 4: 120,386,425 (GRCm39) H655R probably damaging Het
Scyl2 A T 10: 89,476,598 (GRCm39) N842K probably benign Het
Sec23b T A 2: 144,409,049 (GRCm39) M211K probably benign Het
Serpina3i A C 12: 104,234,897 (GRCm39) *409C probably null Het
Sgk2 G A 2: 162,839,779 (GRCm39) R129H probably benign Het
Slc39a13 A G 2: 90,898,871 (GRCm39) I80T probably damaging Het
Smarcad1 A G 6: 65,029,631 (GRCm39) D73G probably benign Het
Spata18 A C 5: 73,826,888 (GRCm39) T276P probably damaging Het
Srgap1 T G 10: 121,691,278 (GRCm39) M319L probably benign Het
Stx7 T A 10: 24,060,903 (GRCm39) V210E probably damaging Het
Tjp2 T A 19: 24,108,776 (GRCm39) H112L probably benign Het
Tuba8 A T 6: 121,197,385 (GRCm39) I16F probably damaging Het
Ube3c G A 5: 29,851,617 (GRCm39) A815T probably benign Het
Vmn2r5 A T 3: 64,417,116 (GRCm39) V14E probably benign Het
Vmn2r79 A T 7: 86,653,247 (GRCm39) probably null Het
Zdbf2 A G 1: 63,343,018 (GRCm39) T466A possibly damaging Het
Other mutations in Megf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01122:Megf6 APN 4 154,338,264 (GRCm39) missense probably damaging 1.00
IGL01410:Megf6 APN 4 154,337,020 (GRCm39) critical splice donor site probably null
IGL01512:Megf6 APN 4 154,347,040 (GRCm39) missense possibly damaging 0.64
IGL01824:Megf6 APN 4 154,336,691 (GRCm39) missense probably damaging 1.00
IGL02172:Megf6 APN 4 154,355,149 (GRCm39) missense probably damaging 1.00
IGL02727:Megf6 APN 4 154,337,606 (GRCm39) splice site probably null
IGL02966:Megf6 APN 4 154,338,234 (GRCm39) missense probably damaging 1.00
Didactic UTSW 4 154,339,044 (GRCm39) missense probably damaging 1.00
R0118:Megf6 UTSW 4 154,339,098 (GRCm39) missense probably damaging 0.99
R0220:Megf6 UTSW 4 154,342,672 (GRCm39) missense probably damaging 1.00
R0347:Megf6 UTSW 4 154,339,092 (GRCm39) missense possibly damaging 0.90
R0383:Megf6 UTSW 4 154,349,783 (GRCm39) missense probably benign 0.01
R0417:Megf6 UTSW 4 154,352,424 (GRCm39) missense probably benign 0.06
R0526:Megf6 UTSW 4 154,343,398 (GRCm39) missense probably benign
R0528:Megf6 UTSW 4 154,343,630 (GRCm39) missense probably benign 0.04
R0928:Megf6 UTSW 4 154,261,504 (GRCm39) missense probably damaging 1.00
R1311:Megf6 UTSW 4 154,348,239 (GRCm39) splice site probably null
R1458:Megf6 UTSW 4 154,261,578 (GRCm39) missense probably benign 0.39
R1470:Megf6 UTSW 4 154,336,876 (GRCm39) splice site probably benign
R1476:Megf6 UTSW 4 154,261,578 (GRCm39) missense probably benign 0.39
R1479:Megf6 UTSW 4 154,261,578 (GRCm39) missense probably benign 0.39
R1626:Megf6 UTSW 4 154,261,578 (GRCm39) missense probably benign 0.39
R1638:Megf6 UTSW 4 154,346,967 (GRCm39) splice site probably benign
R1777:Megf6 UTSW 4 154,355,147 (GRCm39) nonsense probably null
R1831:Megf6 UTSW 4 154,355,134 (GRCm39) missense probably benign 0.00
R1944:Megf6 UTSW 4 154,340,523 (GRCm39) missense possibly damaging 0.75
R1984:Megf6 UTSW 4 154,352,124 (GRCm39) missense probably damaging 1.00
R2109:Megf6 UTSW 4 154,261,578 (GRCm39) missense probably benign 0.39
R2448:Megf6 UTSW 4 154,351,102 (GRCm39) splice site probably null
R2880:Megf6 UTSW 4 154,337,006 (GRCm39) missense probably damaging 1.00
R4032:Megf6 UTSW 4 154,261,550 (GRCm39) nonsense probably null
R4058:Megf6 UTSW 4 154,326,989 (GRCm39) splice site probably benign
R4672:Megf6 UTSW 4 154,333,909 (GRCm39) missense probably damaging 0.99
R4688:Megf6 UTSW 4 154,338,271 (GRCm39) missense probably damaging 0.99
R4752:Megf6 UTSW 4 154,336,895 (GRCm39) missense probably damaging 1.00
R4863:Megf6 UTSW 4 154,338,738 (GRCm39) critical splice donor site probably null
R4909:Megf6 UTSW 4 154,349,848 (GRCm39) missense probably damaging 1.00
R4942:Megf6 UTSW 4 154,338,277 (GRCm39) missense probably damaging 1.00
R4981:Megf6 UTSW 4 154,351,907 (GRCm39) missense possibly damaging 0.95
R4990:Megf6 UTSW 4 154,351,683 (GRCm39) missense possibly damaging 0.94
R5001:Megf6 UTSW 4 154,352,517 (GRCm39) missense probably damaging 1.00
R5189:Megf6 UTSW 4 154,336,980 (GRCm39) missense probably benign 0.31
R5210:Megf6 UTSW 4 154,354,273 (GRCm39) intron probably benign
R5220:Megf6 UTSW 4 154,338,295 (GRCm39) critical splice donor site probably null
R5250:Megf6 UTSW 4 154,340,467 (GRCm39) missense possibly damaging 0.65
R5697:Megf6 UTSW 4 154,342,686 (GRCm39) missense probably null 0.15
R5808:Megf6 UTSW 4 154,352,119 (GRCm39) missense probably benign
R5916:Megf6 UTSW 4 154,333,882 (GRCm39) critical splice acceptor site probably null
R6054:Megf6 UTSW 4 154,347,636 (GRCm39) missense probably benign 0.06
R6075:Megf6 UTSW 4 154,347,056 (GRCm39) nonsense probably null
R6515:Megf6 UTSW 4 154,343,376 (GRCm39) missense possibly damaging 0.84
R6599:Megf6 UTSW 4 154,342,544 (GRCm39) splice site probably null
R6811:Megf6 UTSW 4 154,336,618 (GRCm39) missense probably damaging 1.00
R6925:Megf6 UTSW 4 154,339,044 (GRCm39) missense probably damaging 1.00
R7023:Megf6 UTSW 4 154,338,602 (GRCm39) missense possibly damaging 0.95
R7117:Megf6 UTSW 4 154,343,379 (GRCm39) missense possibly damaging 0.78
R7163:Megf6 UTSW 4 154,351,898 (GRCm39) missense probably damaging 0.98
R7345:Megf6 UTSW 4 154,351,772 (GRCm39) missense probably benign
R7580:Megf6 UTSW 4 154,355,201 (GRCm39) nonsense probably null
R7649:Megf6 UTSW 4 154,349,542 (GRCm39) missense probably damaging 0.96
R7702:Megf6 UTSW 4 154,354,927 (GRCm39) missense probably benign 0.00
R8010:Megf6 UTSW 4 154,354,964 (GRCm39) missense probably benign 0.13
R8175:Megf6 UTSW 4 154,353,076 (GRCm39) nonsense probably null
R8231:Megf6 UTSW 4 154,336,975 (GRCm39) missense probably damaging 1.00
R8436:Megf6 UTSW 4 154,349,649 (GRCm39) missense probably damaging 1.00
R8460:Megf6 UTSW 4 154,350,634 (GRCm39) nonsense probably null
R8738:Megf6 UTSW 4 154,352,436 (GRCm39) missense probably benign
R8854:Megf6 UTSW 4 154,352,469 (GRCm39) missense probably damaging 1.00
R8896:Megf6 UTSW 4 154,326,860 (GRCm39) missense probably damaging 0.99
R9098:Megf6 UTSW 4 154,354,160 (GRCm39) missense probably damaging 0.99
R9147:Megf6 UTSW 4 154,339,130 (GRCm39) missense probably benign 0.18
R9148:Megf6 UTSW 4 154,339,130 (GRCm39) missense probably benign 0.18
R9161:Megf6 UTSW 4 154,352,172 (GRCm39) missense probably benign 0.44
R9355:Megf6 UTSW 4 154,338,282 (GRCm39) missense probably damaging 1.00
R9386:Megf6 UTSW 4 154,340,534 (GRCm39) missense probably damaging 1.00
R9404:Megf6 UTSW 4 154,348,225 (GRCm39) missense
R9469:Megf6 UTSW 4 154,335,369 (GRCm39) missense probably damaging 1.00
R9472:Megf6 UTSW 4 154,333,910 (GRCm39) missense probably damaging 1.00
R9777:Megf6 UTSW 4 154,343,617 (GRCm39) missense probably damaging 1.00
Z1177:Megf6 UTSW 4 154,322,283 (GRCm39) missense probably benign 0.12
Z1177:Megf6 UTSW 4 154,354,198 (GRCm39) nonsense probably null
Z1177:Megf6 UTSW 4 154,352,204 (GRCm39) nonsense probably null
Z1177:Megf6 UTSW 4 154,352,139 (GRCm39) missense probably damaging 0.99
Z1177:Megf6 UTSW 4 154,352,138 (GRCm39) missense possibly damaging 0.48
Z1177:Megf6 UTSW 4 154,335,306 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTATTAGGGACAGCCCCATGCAGC -3'
(R):5'- TGAAAGGCCATGCCCTCAGTAAAG -3'

Sequencing Primer
(F):5'- CTTGTCCTGGAGTCCCAAGTG -3'
(R):5'- CATGCCCTCAGTAAAGGGAATG -3'
Posted On 2014-04-24